rs431825382
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTGT) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(-;TGTC) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(TGTC;TGTC) | 0 | common in clinvar |
Make rs431825382(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43045573 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs431825382 |
dbSNP (classic) | rs431825382 |
ClinGen | rs431825382 |
ebi | rs431825382 |
HLI | rs431825382 |
Exac | rs431825382 |
Gnomad | rs431825382 |
Varsome | rs431825382 |
LitVar | rs431825382 |
Map | rs431825382 |
PheGenI | rs431825382 |
Biobank | rs431825382 |
1000 genomes | rs431825382 |
hgdp | rs431825382 |
ensembl | rs431825382 |
geneview | rs431825382 |
scholar | rs431825382 |
rs431825382 | |
pharmgkb | rs431825382 |
gwascentral | rs431825382 |
openSNP | rs431825382 |
23andMe | rs431825382 |
SNPshot | rs431825382 |
SNPdbe | rs431825382 |
MSV3d | rs431825382 |
GWAS Ctlg | rs431825382 |
Max Magnitude | 6 |
BRCA1, c.*102_*105delCTGT
ClinVar | |
---|---|
Risk | rs431825382(-;-) |
Alt | rs431825382(-;-) |
Reference | Rs431825382(TGTC;TGTC) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer |
Variation | info |
Gene | BRCA1 |
CLNDBN | Breast-ovarian cancer, familial 1 |
Reversed | 1 |
HGVS | NC_000017.10:g.41197590_41197593delACAG |
CLNSRC | ClinVar |
CLNACC | RCV000083012.2, |